Hitherto unreported involvement pattern of Carvajal phenotype of cardiocutaneous syndrome: evaluation on cardiac MRI

Sharma, Arun; Duraisamy, Sharmila; Pandey, Niraj Nirmal; Kumar, Sanjeev

doi:10.1136/bcr-2018-227332

Cited by 1 publication

(2 citation statements)

References 3 publications

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“…Pathologically, there is patchy fibrosis of the left ventricular epicardium. 13 In one report, the heart from an affected patient who died suddenly weighed twice that of normal with aneurysms in the posterior and anteroseptal walls. 10 The major cardiac feature distinguishing Carvajal syndrome from Naxos disease is that the latter is characterized by right ventricular fibrofatty replacement of myocardial tissue with occasional left ventricular involvement.…”

Section: Carvajal Syndromementioning

confidence: 99%

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Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes

Sun

Lee

Hall

et al. 2020

Pediatric Dermatology

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The skin and heart make an unlikely pair. The two seemingly disparate systems not only share ultrastructural components but also molecular backgrounds. Both undergo mechanical stress and maintain tissue integrity by distributing the strain through desmosomes, calcium-dependent adhesion structures that connect intermediate filaments to intercellular junctions. 1 Desmoplakin (DSP) is the most abundant desmosomal protein and is particularly abundant in the epidermis and heart. At the molecular level, mutations in desmosomal genes cause cardiocutaneous syndromes, which feature cardiac and cutaneous manifestations with or without involvement of other organs. 2 A deletion in the plakoglobin gene, JUP, causes Naxos disease (OMIM# 601214), which features woolly hair, palmoplantar keratoderma (PPK), and arrhythmogenic right ventricular cardiomyopathy (ARVC) with onset typically in early adulthood. 3 Mutations in the desmoplakin gene, DSP, cause Carvajal syndrome (OMIM# 605656) and erythrokeratodermia cardiomyopathy syndrome (EKC, OMIM# 615821). 3,4 Carvajal syndrome demonstrates woolly hair, striate PPK (Figure 1), and dilated left ventricular cardiomyopathy that may predispose to sudden cardiac death. 5 Despite genetic heterogeneity, many consider Carvajal syndrome to be a variant of Naxos disease, as the two disorders are clinically similar with subtle differences. EKC primarily features sparse, coarse hair or alopecia, ichthyosis, generalized erythrokeratodermia, failure to thrive, dental abnormalities, and left ventricular dilated cardiomyopathy. 4,6 This article focuses on Carvajal and EKC syndromes, two inherited diseases with skin and hair manifestations that belie potential lethality in early childhood if not treated in a timely manner. Our goal is to raise clinicians' index of suspicion for these rare disorders. The cutaneous signs can appear subtle, non-syndromic, and may be easily missed. Early recognition is paramount as the underlying cardiac anomalies can debut as sudden cardiac death. We present two patients-one with Carvajal syndrome and one with EKC syndrome-to illustrate how the physical examination

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Section: Carvajal Syndromementioning

confidence: 99%

“…The classic triad of Carvajal syndrome includes woolly hair, PPK, and left ventricular dilated cardiomyopathy leading to early morbidity. 13 Woolly hair appears first, often at birth or shortly after. The hair is curly, slow-growing, difficult to comb, brittle, fine, and lackluster.…”

Section: Carvajal Syndromementioning

confidence: 99%